Hb Newcastle: β92 (F8) his → pro

The Role of Cyclo(His-Pro) in Neurodegeneration

Neurodegenerative diseases may have distinct genetic etiologies and pathological manifestations, yet share common cellular mechanisms underpinning neuronal damage and dysfunction. These cellular mechanisms include excitotoxicity, calcium dysregulation, oxidative damage, ER stress and neuroinflammation. Recent data have identified a dual role in these events for glial cells, such as microglia an...

An identical mutation carried by different genes: Hb Frankfurt [alpha50(CE8)His->Gln].

A further case of Hb J-Iran [beta77(EF1)His->Asp] in Muğla, Turkey.

Hb J-Iran [beta77(EF1)His-Asp] is a rare hemoglobin variant, described first in Iran by Rahbar et al. in 1967 . To date, several abnormal hemoglobins have been described from different regions of Turkey . In Turkey, the first Hb J-Iran [beta77(EF1) His-Asp] case was reported by Arcasoy et al. . There are four reported cases from the Turkish population, mostly from our group. These reported case...

First observation of homozygote Hb Q-Iran (alpha 75 (EF4) Asp-His).

The first observation of homozygote Hb Q-Iran (α1 75(EF4) Asp-His) is presented in this report. The clinical and hematological data of the index case, his father and mother showed that homozygous or heterozygous Hb Q-Iran has no clinical importance.

Organization of a - Globin Genes in Hb Hasharon ( a 47 asp - his ) Carriers

T HE DISTRIBUTION of the percentage of a globin variant chains in humans is tnimodal, with maxima around 45%, 33%, and 25%’; the latter value is the most commonly found and comparison with the usual 45%-50% value for f3 globin mutants was the basis for the suggestion2 that a globin genes are duplicated in humans. Thus, the dyploid number of a genes would be 4, one of which should be the mutated...